Variant report

Variant	rs7372108
Chromosome Location	chr3:48175187-48175188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48173560..48176129-chr3:48181769..48183974,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2593817	1.00[AMR][1000 genomes]
rs319683	1.00[AMR][1000 genomes]
rs34675858	1.00[AMR][1000 genomes]
rs3731495	1.00[AMR][1000 genomes]
rs3731539	1.00[AMR][1000 genomes]
rs3731547	1.00[AMR][1000 genomes]
rs4476528	1.00[AMR][1000 genomes]
rs55808934	1.00[AMR][1000 genomes]
rs6442092	1.00[AMR][1000 genomes]
rs6442104	1.00[AMR][1000 genomes]
rs6773945	1.00[AMR][1000 genomes]
rs73831540	1.00[AMR][1000 genomes]
rs73831544	1.00[AMR][1000 genomes]
rs73831562	1.00[AMR][1000 genomes]
rs73831565	1.00[AMR][1000 genomes]
rs9863220	1.00[AMR][1000 genomes]
rs9917799	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48167000-48177400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:48167200-48178800	Weak transcription	NHEK	skin
3	chr3:48167800-48181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:48170800-48177200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:48170800-48178800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:48172400-48184000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:48172600-48176800	Weak transcription	Brain Substantia Nigra	brain
8	chr3:48172600-48177000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:48172600-48177200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:48172800-48177000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:48172800-48177400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:48172800-48181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:48172800-48184000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:48173000-48176800	Weak transcription	HepG2	liver
15	chr3:48173000-48177000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:48173000-48177000	Weak transcription	Brain Anterior Caudate	brain
17	chr3:48173000-48177000	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:48173000-48177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:48173000-48177200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:48173000-48177200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:48173000-48177200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:48173000-48177200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:48173000-48177200	Weak transcription	Brain Angular Gyrus	brain
24	chr3:48173000-48177200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:48173000-48177200	Weak transcription	Fetal Intestine Small	intestine
26	chr3:48173000-48177200	Weak transcription	Fetal Kidney	kidney
27	chr3:48173000-48177400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:48173000-48177400	Weak transcription	HUVEC	blood vessel
29	chr3:48173000-48177400	Weak transcription	Osteobl	bone
30	chr3:48173000-48181800	Weak transcription	Right Ventricle	heart
31	chr3:48173000-48181800	Weak transcription	Spleen	Spleen
32	chr3:48173200-48177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:48173200-48181600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:48173200-48181800	Weak transcription	Lung	lung
35	chr3:48175000-48177200	Weak transcription	GM12878-XiMat	blood

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